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Title

Exome sequencing identifies a de novo FOXA2 variant in a patient with syndromic diabetes

Authors
Gerster, Karine
Lang-Muritano, Mariarosaria
Santoni, Federico
Published in Pediatric Diabetes. 2019, vol. 20, no. 3, p. 366-369
Abstract When diabetes is associated with congenital malformations, without autoimmune antibodies, a genetic cause is suspected. Here, we aimed to identify a defective gene that led to diabetes.
Keywords Amino Acid SubstitutionChildDNA Mutational Analysis/methodsDiabetes Mellitus/congenital/geneticsHepatocyte Nuclear Factor 3-beta/chemistry/geneticsHumansLeucine/geneticsMaleModelsMolecularMutationMissensePolymorphismSingle NucleotideProline/geneticsSyndromeWhole Exome Sequencing
Identifiers
PMID: 30684292
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Article (Published version) (527 Kb) - document accessible for UNIGE members only Limited access to UNIGE
Supplemental data (547 Kb) - document accessible for UNIGE members only Limited access to UNIGE
Structures
Research group Diabète et métabolisme (178)
Projects FNS: CR33I3_1166591
FNS: CR33I3_140655
Citation
(ISO format)
STEKELENBURG, Caroline et al. Exome sequencing identifies a de novo FOXA2 variant in a patient with syndromic diabetes. In: Pediatric Diabetes, 2019, vol. 20, n° 3, p. 366-369. doi: 10.1111/pedi.12814 https://archive-ouverte.unige.ch/unige:127542

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Deposited on : 2019-12-06

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